Canonical Allele Identifier: CA398988165

Gene: NF1

Linked Data

• ClinVar Variation Id: 2103660
• ClinVar RCV Id: RCV003041493
• MyVariant Identifiers: chr17:g.29483026A>G (hg19) ; chr17:g.31156008A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31156008A>G , CM000679.2:g.31156008A>G	GRCh38
NC_000017.10:g.29483026A>G , CM000679.1:g.29483026A>G	GRCh37
NC_000017.9:g.26507152A>G	NCBI36
NG_009018.1:g.66032A>G , LRG_214:g.66032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.86A>G	ENSP00000512431.1:p.Asn29Ser
ENST00000691014.1:c.86A>G	ENSP00000510595.1:p.Asn29Ser
ENST00000358273.9:c.86A>G MANE Select	ENSP00000351015.4:p.Asn29Ser
ENST00000356175.7:c.86A>G	ENSP00000348498.3:p.Asn29Ser
ENST00000358273.8:c.86A>G	ENSP00000351015.4:p.Asn29Ser
ENST00000431387.8:c.86A>G	ENSP00000412921.4:p.Asn29Ser
ENST00000487476.5:n.469A>G
ENST00000489712.6:c.-116A>G	ENSP00000467284.1:n.-116A>G
ENST00000579081.5:c.188A>G	ENSP00000462408.1:p.Asn63Ser
NM_000267.3:c.86A>G , LRG_214t1:c.86A>G	NP_000258.1:p.Asn29Ser
NM_001042492.2:c.86A>G , LRG_214t2:c.86A>G	NP_001035957.1:p.Asn29Ser
NM_001128147.2:c.86A>G	NP_001121619.1:p.Asn29Ser
XM_005257983.1:c.86A>G	XP_005258040.1:p.Asn29Ser
XM_005257984.1:c.86A>G	XP_005258041.1:p.Asn29Ser
XM_006721922.1:c.86A>G	XP_006721985.1:p.Asn29Ser
XM_006721923.2:c.47A>G	XP_006721986.1:p.Asn16Ser
XM_006721924.1:c.86A>G	XP_006721987.1:p.Asn29Ser
XM_006721925.1:c.86A>G	XP_006721988.1:p.Asn29Ser
XM_006721926.2:c.86A>G	XP_006721989.1:p.Asn29Ser
XM_006721927.1:c.86A>G	XP_006721990.1:p.Asn29Ser
XM_006721928.2:c.86A>G	XP_006721991.1:p.Asn29Ser
XM_011524852.1:c.86A>G	XP_011523154.1:p.Asn29Ser
XM_011524853.1:c.47A>G	XP_011523155.1:p.Asn16Ser
XM_011524854.1:c.47A>G	XP_011523156.1:p.Asn16Ser
XM_011524855.1:c.47A>G	XP_011523157.1:p.Asn16Ser
XM_011524856.1:c.47A>G	XP_011523158.1:p.Asn16Ser
XM_011524857.1:c.86A>G	XP_011523159.1:p.Asn29Ser
NM_001042492.3:c.86A>G MANE Select	NP_001035957.1:p.Asn29Ser
NM_001128147.3:c.86A>G	NP_001121619.1:p.Asn29Ser